Article
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
Human genetics - 1 Dec 2003
Starke Heike, Nietzel Angela, Weise Anja, Heller Anita, Mrasek Kristin, Belitz Britta, Kelbova Christine, Volleth Marianne, Albrecht Beate, Mitulla Beate, Trappe Ralf, Bartels Iris, Adolph Sabine, Dufke Andreas, Singer Sylke, Stumm Markus, Wegner Rolf-Dieter, Seidel Jörg, Schmidt Angela, Kuechler Alma, Schreyer Isolde, Claussen Uwe, von Eggeling Ferdinand, Liehr Thomas
Abstract excerpt
Small supernumerary marker chromosomes (SMCs) are present in about 0.05% of the human population. In approximately 30% of SMC carriers (excluding the approximately 60% SMC derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. The clinical outcome of an SMC is difficult to predict as they can have different phenotypic consequences because of (1). differences in euchromatic...
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